Results 31 to 40 of about 52,839 (293)
Life of a Child with Hypotonia [PDF]
, 2017 The disorder is found in infants, and not many people heard of this disability. People need to be informed about Hypotonia so that it will benefit research to develop a cause and cure to Hypotonia.
Valedta, Shannon
core +1 more source
DiagnosticsBackground: Monosomy 18p is a chromosomal disorder resulting from the deletion of the short arm of chromosome 18. While a lot of cases result from the partial deletion of 18p, only a few reported cases are caused by the deletion of the whole short arm of
Bojana Marković +5 more
doaj +1 more source
Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants
Molecular Genetics & Genomic Medicine, 2022 Background We aimed to determine the molecular and biochemical basis of an extended highly consanguineous family with multiple children presenting severe congenital hypotonia.
Limor Kalfon +9 more
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Frontiers in Genetics, 2022 Dopa-responsive dystonia (DRD) comprises a group of rare but treatable dystonias that exhibit diurnal fluctuation. The GCH1 gene encodes GTP cyclohydrolase-1 (GTPCH-І), a protein that catalyzes the first rate-limiting step of tetrahydrobiopterin ...
Yun Chen +4 more
doaj +1 more source
Demystifying the Mystery of Vitamin B12 Deficiency in an Infant with Developmental Delay
Dubai Medical Journal, 2022 A 7-month-old boy presented to our hospital with complaints of epistaxis. Pancytopenia was found on a blood test, and physical examination was significant for hepatosplenomegaly, acral hyperpigmentation of hands and feet, and hypotonia, along with mild ...
Heba Ali Aldarawsha +3 more
doaj +1 more source
Diagnostic Approach to Neonatal Hypotonia [PDF]
, 2008 The frequency of various disorders causing neonatal hypotonia and the reliability of the first physical examination and standard diagnostic tests were evaluated by a retrospective review of records of 144 patients diagnosed between 1999 and 2005 at ...
J. G. Millichap, J Gordon Millichap
core +1 more source
Molecular Oncology, EarlyView.The kinase SRPK1 directly interacts with the protein TOPBP1 and regulates the pre‐mRNA splicing of WIZ thereby contributing to the activation of the ATR/CHK1 replicative checkpoint in response to replicative stress. This allows cancer cells' genomic stability and survival.
Amani Shreim +17 more
wiley +1 more source
Frontiers in GeneticsChildhood-onset ataxia, intention tremor and hypotonia syndrome (ATITHS) is a rare neurological disorder that encompasses features of hereditary ataxia, hypotonia.
Qisheng Hu +7 more
doaj +1 more source
Molecular characterization of covRS mutations in M1UK Streptococcus pyogenes
FEBS Open Bio, EarlyView.Group A Streptococcus (GAS) acquires covRS mutations driving a hypervirulent bacterial state, frequently associated with invasive disease‐like necrotizing fasciitis. We demonstrate that the newly emerged M1UK GAS lineage can also acquire these mutations.
Jarrad Pritchard +12 more
wiley +1 more source
Type I interferons modulate autophagy to shape gemcitabine response in pancreatic cancer cells
FEBS Open Bio, EarlyView.Type I interferons differentially modulate autophagy and the response of pancreatic cancer cells to gemcitabine. IFNα2b stimulates autophagic flux and protects cells from gemcitabine‐induced cell death, contributing to chemoresistance. In contrast, IFNβ1a inhibits autophagosome formation and enhances gemcitabine‐induced cell death, resulting in ...
Lucy E. Bonilla +10 more
wiley +1 more source